Article
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
Investigative ophthalmology & visual science - 21 Jan 2011
D'haene Barbara, Meire Françoise, Claerhout Ilse, Kroes Hester Y, Plomp Astrid, Arens Yvonne H, de Ravel Thomy, Casteels Ingele, De Jaegere Sarah, Hooghe Sally, Wuyts Wim, van den Ende Jenneke, Roulez Françoise, Veenstra-Knol Hermine E, Oldenburg Rogier A, Giltay Jacques, Verheij Johanna B G M, de Faber Jan-Tjeerd, Menten Björn, De Paepe Anne, Kestelyn Philippe, Leroy Bart P, De Baere Elfride
Abstract excerpt
PURPOSE: Anterior segment dysgenesis (ASD) comprises a heterogeneous group of developmental abnormalities that affect several structures of the anterior segment of the eye. The main purpose of this study was to assess the proportion of FOXC1 and PITX2 mutations and copy number changes in 80 probands with ASD. METHODS: The patients were examined for FOXC1 and PITX2 copy number changes and mutations using MLPA...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
